Polymorphism distribution of Int13, Int22, and St14 VNTRs in a Mexican population and their application in carrier diagnosis of hemophilia A

Variable nucleotide tandem repeats (VNTR) Int13, Int22, and St14 were analyzed to determine polymorphic distribution in normal individuals from Mexico's central region and their efficacy in detecting hemophilia A carriers. Polymerase chain reaction (PCR) was carried out on 166 X chromosomes fro...

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Bibliographic Details
Published in:American journal of hematology 2004-09, Vol.77 (1), p.1-6
Main Authors: Martínez Gallegos, Rafael, Benítez Aranda, Herminia, Navarrete, Carmen, Peñaloza Espinoza, Rosenda, Salamanca Gómez, Fabio, Arenas Aranda, Diego
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
carrier diagnosis
Chromosomes, Human, X
Ethnic Groups - genetics
Family Health
Female
Gene Frequency
Genetic Testing - methods
Hematologic and hematopoietic diseases
hemophilia A
Hemophilia A - diagnosis
Hemophilia A - epidemiology
Hemophilia A - genetics
Heterozygote
Humans
Male
Medical sciences
Mexican population
Mexico - epidemiology
Mexico - ethnology
Minisatellite Repeats
Pedigree
Platelet diseases and coagulopathies
Polymorphism, Genetic
polymorphisms
VNTR
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Summary:Variable nucleotide tandem repeats (VNTR) Int13, Int22, and St14 were analyzed to determine polymorphic distribution in normal individuals from Mexico's central region and their efficacy in detecting hemophilia A carriers. Polymerase chain reaction (PCR) was carried out on 166 X chromosomes from unrelated Mexicans, and the same method was applied to detect carriers in hemophilia A families. Screening revealed the existence of at least eight different alleles for Int13, 4 alleles for Int22, and 10 alleles for St14. Their heterozygosity rates were 41.3%, 52.6%, and 83%, respectively. Compared to Caucasians, the Mexican population showed a markedly low heterozygosity rate for the Int13 marker. However, Int22 showed a heterozygosity that was similar to Turkish and Chinese populations. The St14 marker was the most informative in carrier diagnosis, and a new 680‐bp allele not previously reported was detected. Carrier diagnosis was performed in 39 women from eight different hemophilia A families. Fifteen (38%) females were not carriers, 16 (41%) females were carriers, and 8 (21%) were homozygous. Determination of polymorphisms in VNTR markers revealed that St14 was the most useful for hemophilia A carrier detection in Mexico. Am. J. Hematol. 77:1–6, 2004. © 2004 Wiley‐Liss, Inc.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.20115